Questionnaire Study on Eye and Systemic Effects of Congenital Aniridia and Patient Knowledge

What this Trial Is About

Congenital aniridia is a rare genetic eye condition characterized by a partial or complete absence of the iris. It affects multiple parts of the eye and can include glaucoma, cataracts, corneal scarring with new blood vessel growth, foveal underdevelopment with eye movement issues, and optic nerve underdevelopment. The disease varies widely among individuals and can also be linked to severe systemic syndromes. This study aims to identify both eye and systemic symptoms in people with congenital aniridia and assess their understanding of the condition through a one-time survey. Participants will complete a survey created by ophthalmologists at a specialized hospital center. The survey is designed to collect information on the manifestations of congenital aniridia and the patients or their parents knowledge about the disease. Adult patients who can answer independently and children whose parents can respond for them are included. The survey is completed once per participant. During the study, researchers will collect data from the survey responses to evaluate eye and systemic signs of the disease, patient autonomy, and knowledge of their condition. The main outcome is the identification of ocular and systemic manifestations over 24 months. Secondary outcomes include understanding patient and parental knowledge and factors affecting this knowledge. Participation involves just one survey completion, with no additional treatments or procedures.

Congenital Aniridia Patient Questionnaire